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Publications by Mohammadreza Dehghani

A Novel Loss-Of-Function Mutation in HOXB1 Associated With Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family

Molecular Syndromology

English

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Impaired PIEZO1 Function in Patients With a Novel Autosomal Recessive Congenital Lymphatic Dysplasia

Nature Communications

Molecular Biology

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Identification of a Novel Homozygous Mutation, TMPRSS3: C.535G>A, in a Tibetan Family With Autosomal Recessive Non-Syndromic Hearing Loss

Multidisciplinary

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Novel Homozygous Mutation in the MYO15A Gene in Autosomal Recessive Hearing Loss

Zahedan Journal of Research in Medical Sciences

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Loss-Of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes

Internal Medicine

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A Novel Missence Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

Journal of Integrative Cardiology

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A Homozygous Missense Mutation in SLC25A16 Is Associated With Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family

British Journal of Dermatology

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INPP5K Variant Causes Autosomal Recessive Congenital Cataract in a Pakistani Family

Clinical Genetics

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A Novel Missense Mutation in MSX1 Underlies Autosomal Recessive Oligodontia With Associated Dental Anomalies in Pakistani Families

Journal of Human Genetics

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A Novel NR2E3 Gene Mutation in Autosomal Recessive Retinitis Pigmentosa With Cystic Maculopathy

Acta Ophthalmologica

English